Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2013 1
2015 2
2016 1
2018 1
2022 1
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Results by year

Filters applied: . Clear all
Page 1
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L. Rasmussen M, et al. Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi: 10.1002/ajmg.a.37848. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27409573 Review.
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). ...We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions an …
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosoma …
17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.
Roehlen N, Hilger H, Stock F, Gläser B, Guhl J, Schmitt-Graeff A, Seufert J, Laubner K. Roehlen N, et al. J Clin Endocrinol Metab. 2018 Oct 1;103(10):3601-3610. doi: 10.1210/jc.2018-00955. J Clin Endocrinol Metab. 2018. PMID: 30032214 Review.
A PubMed search using the terms 17q12 deletion syndrome, diabetes mellitus type MODY5, and/or HNF1B was performed. ...A wide variety of additional clinical features, including genital and brain malformations, has been reported. Because HNF1B deletions …
A PubMed search using the terms 17q12 deletion syndrome, diabetes mellitus type MODY5, and/or HNF1B was performed. ...A …
Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.
Correa-Silva SR, Kunii I, Mitne-Neto M, Moreira CM, Dias-da-Silva MR, Abucham J. Correa-Silva SR, et al. J Neuroendocrinol. 2023 Jan;35(1):e13221. doi: 10.1111/jne.13221. Epub 2022 Dec 10. J Neuroendocrinol. 2023. PMID: 36495109 Review.
Thirty-five distinct rare CNVs were observed in 18 patients (86%) and two of them (6%) were classified as pathogenic: one deletion of 1.8 Mb in chromosome 17 (17q12) and one deletion of 15 Mb in chromosome 18 (18p11.32p11.21), each one in a dist …
Thirty-five distinct rare CNVs were observed in 18 patients (86%) and two of them (6%) were classified as pathogenic: one deletion of …
Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.
Jones GE, Mousa HA, Rowley H, Houtman P, Vasudevan PC. Jones GE, et al. Prenat Diagn. 2015 Dec;35(13):1336-41. doi: 10.1002/pd.4701. Epub 2015 Nov 9. Prenat Diagn. 2015. PMID: 26429400 Review.
OBJECTIVE: The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. ...In family 2, prenatal ultrasound scans …
OBJECTIVE: The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diag …
Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion.
Chen CP, Wu FT, Pan YT, Wu PS, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2024 Jan;63(1):77-80. doi: 10.1016/j.tjog.2023.10.005. Taiwan J Obstet Gynecol. 2024. PMID: 38216274 Free article. Review.
OBJECTIVE: We present prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature. ...Prenatal diagnosis of f …
OBJECTIVE: We present prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral h …
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Bierhals T, et al. Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307502 Review.
The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, has led to the delineation of several submicroscopic deletion/duplication syndromes. De novo copy number variations are often …
The routine use of molecular karyotyping in the evaluation of patients with idiopathic developmental delay with/without dysmorphic features, …
Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male.
Wu FT, Chen CP, Chen SW, Chern SR, Chen PT, Chiu CL, Lee CC, Chen WL, Wang W. Wu FT, et al. Taiwan J Obstet Gynecol. 2023 Mar;62(2):336-342. doi: 10.1016/j.tjog.2022.11.014. Taiwan J Obstet Gynecol. 2023. PMID: 36965905 Free article. Review.
OBJECTIVE: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. ...CONCLUSION: Genetic analysis of an infertile male may detect multiple facto …
OBJECTIVE: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocati …
Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.
van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, Hoenderop JG, Vargas Poussou R, de Baaij JH. van der Made CI, et al. Am J Nephrol. 2015;42(1):85-90. doi: 10.1159/000439286. Am J Nephrol. 2015. PMID: 26340261 Free article. Review.
Exome sequencing performed for analysis of known and candidate hypomagnesaemia genes and subsequent multiplex ligation-dependent probe amplification analysis revealed a large deletion at the chromosome 17q12. Follow-up analysis showed increased blood glucose …
Exome sequencing performed for analysis of known and candidate hypomagnesaemia genes and subsequent multiplex ligation-dependent probe ampli …